Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826376691

Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 468595

ClinVar RCV Id: RCV000560382 RCV003317269 RCV001662571 RCV003156051 RCV003302853 RCV004553231

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243142.1:p.Arg75Gln	CA9467926 NM_001256213.2:c.224G>A